Related Experiment Video

Updated: Sep 22, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Functional studies of the MEN1 gene

S C Chandrasekharappa1, B T Teh

  • 1Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Journal of Internal Medicine
|May 21, 2003
PubMed

Insights

Multiple endocrine neoplasia type 1 (MEN1) is a genetic cancer syndrome. The MEN1 gene acts as a tumor suppressor, with its protein menin regulating gene transcription and contributing to MEN1 development.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome.
  • It primarily affects parathyroid, enteropancreatic endocrine, and pituitary tissues.

Purpose of the Study:

  • To investigate the role of the MEN1 gene and its encoded protein, menin, in tumorigenesis.
  • To understand the molecular mechanisms underlying MEN1.

Main Methods:

  • Analysis of germline and somatic mutations in the MEN1 gene.
  • Examination of allele loss in tumors.
  • Characterization of menin's function as a nuclear protein.
  • Investigation of menin's interactions with transcriptional regulators (JunD, NF-kappaB, Smad3).
  • Utilizing a mouse Men1 knockout model.

Main Results:

  • Inactivating mutations and loss of the second allele confirm the MEN1 gene as a tumor suppressor.
  • Menin is a novel nuclear protein that binds and modulates transcriptional activation mediated by JunD, NF-kappaB, and Smad3.
  • The mouse Men1 knockout model recapitulates human MEN1 phenotypes.

Conclusions:

  • The MEN1 gene functions as a tumor suppressor.
  • Menin plays a critical role in regulating gene transcription, and its dysfunction contributes to MEN1 development.
  • The mouse model is valuable for studying MEN1 tumorigenesis.

More Related Videos

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Concept Videos

Pleiotropy01:47

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...